Casarubinstein síndrome

Exon deletions of the EP300 and CREBBP genes in two children with

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Last updated 27 março 2025
Exon deletions of the EP300 and CREBBP genes in two children with
Exon deletions of the EP300 and CREBBP genes in two children with
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open
Exon deletions of the EP300 and CREBBP genes in two children with
IJMS, Free Full-Text
Exon deletions of the EP300 and CREBBP genes in two children with
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
Exon deletions of the EP300 and CREBBP genes in two children with
Inactivation of a Single Copy of Crebbp Selectively Alters Pre-mRNA Processing in Mouse Hematopoietic Stem Cells
Exon deletions of the EP300 and CREBBP genes in two children with
CREBBP/EP300 bromodomains are critical to sustain the GATA1/MYC regulatory axis in proliferation, Epigenetics & Chromatin
Exon deletions of the EP300 and CREBBP genes in two children with
KMT2D acetylation by CREBBP reveals a cooperative functional interaction at enhancers in normal and malignant germinal center B cells
Exon deletions of the EP300 and CREBBP genes in two children with
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
Exon deletions of the EP300 and CREBBP genes in two children with
Cancers, Free Full-Text
Exon deletions of the EP300 and CREBBP genes in two children with
Frontiers Cancer Predisposition Syndromes and Medulloblastoma in the Molecular Era
Exon deletions of the EP300 and CREBBP genes in two children with
EP300 Gene - GeneCards, EP300 Protein
Exon deletions of the EP300 and CREBBP genes in two children with
Unique and Shared Epigenetic Programs of the CREBBP and EP300 Acetyltransferases in Germinal Center B Cells Reveal Targetable Dependencies in Lymphoma - ScienceDirect
Exon deletions of the EP300 and CREBBP genes in two children with
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch
Exon deletions of the EP300 and CREBBP genes in two children with
Clinical and molecular characteristics of MEF2D fusion-positive B-cell precursor acute lymphoblastic leukemia in childhood, including a novel translocation resulting in MEF2D-HNRNPH1 gene fusion
Exon deletions of the EP300 and CREBBP genes in two children with
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
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